ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.6230C>T (p.Ala2077Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV002465005 SCV002759397 likely pathogenic Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 2022-06-07 criteria provided, single submitter clinical testing The c.6230C>T variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS) and Indian Exome Database. The heterozygous state of the variant is present in Exome Aggregation Consortium (ExAC) and Genome Aggregation Database (gnomAD), at a very low frequency. The variant is not present in our in-house exome database. The variant was not previously reported to Clinvar, Human Genome Mutation Database (HGMD) and/or OMIM databases in any affected individuals. Predictions from different in-silico pathogenicity prediction programs like SIFT, PolyPhen-2, MutationTaster2, CADD, Varsome etc. are contradictory. The variant is located near the exon-intron junction (distance 2 bp) and different algorithms to predict mRNA splicing abnormalities, predicted this variant to affect splicing, however these predictions were not confirmed by any published transcriptional studies.
Ambry Genetics RCV004067551 SCV004957137 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.6230C>T (p.A2077V) alteration is located in exon 30 (coding exon 29) of the SPTBN2 gene. This alteration results from a C to T substitution at nucleotide position 6230, causing the alanine (A) at amino acid position 2077 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004801219 SCV005421474 uncertain significance not provided 2024-06-04 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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